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Items: 1 to 50 of 81

1.

Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance.

Powis Z, Farwell Hagman KD, Mroske C, McWalter K, Cohen JS, Colombo R, Serretti A, Fatemi A, David KL, Reynolds J, Immken L, Nagakura H, Cunniff CM, Payne K, Barbaro-Dieber T, Gripp KW, Baker L, Stamper T, Aleck KA, Jordan ES, Hersh JH, Burton J, Wentzensen IM, Guillen Sacoto MJ, Willaert R, Cho MT, Petrik I, Huether R, Tang S.

Clin Genet. 2018 Apr;93(4):752-761. doi: 10.1111/cge.13132. Epub 2018 Jan 7.

PMID:
28881385
2.

Molecular characterization of distal 4q duplication in two patients using oligonucleotide array-based comparative genomic hybridization (oaCGH) analysis.

Thapa M, Asamoah A, Gowans GC, Platky KC, Barch MJ, Mouchrani P, Rajakaruna C, Hersh JH.

Am J Med Genet A. 2014 Apr;164A(4):1069-74. doi: 10.1002/ajmg.a.36396. Epub 2014 Jan 23.

PMID:
24459084
3.

Hypophosphatasia: nonlethal disease despite skeletal presentation in utero (17 new cases and literature review).

Wenkert D, McAlister WH, Coburn SP, Zerega JA, Ryan LM, Ericson KL, Hersh JH, Mumm S, Whyte MP.

J Bone Miner Res. 2011 Oct;26(10):2389-98. doi: 10.1002/jbmr.454. Review.

4.

Health supervision for children with fragile X syndrome.

Hersh JH, Saul RA; Committee on Genetics.

Pediatrics. 2011 May;127(5):994-1006. doi: 10.1542/peds.2010-3500. Epub 2011 Apr 25. Review.

PMID:
21518720
5.

20p11 deletion in a female child with panhypopituitarism, cleft lip and palate, dysmorphic facial features, global developmental delay and seizure disorder.

Williams PG, Wetherbee JJ, Rosenfeld JA, Hersh JH.

Am J Med Genet A. 2011 Jan;155A(1):186-91. doi: 10.1002/ajmg.a.33763.

PMID:
21204230
6.

Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations.

Johnston JJ, Sapp JC, Turner JT, Amor D, Aftimos S, Aleck KA, Bocian M, Bodurtha JN, Cox GF, Curry CJ, Day R, Donnai D, Field M, Fujiwara I, Gabbett M, Gal M, Graham JM, Hedera P, Hennekam RC, Hersh JH, Hopkin RJ, Kayserili H, Kidd AM, Kimonis V, Lin AE, Lynch SA, Maisenbacher M, Mansour S, McGaughran J, Mehta L, Murphy H, Raygada M, Robin NH, Rope AF, Rosenbaum KN, Schaefer GB, Shealy A, Smith W, Soller M, Sommer A, Stalker HJ, Steiner B, Stephan MJ, Tilstra D, Tomkins S, Trapane P, Tsai AC, Van Allen MI, Vasudevan PC, Zabel B, Zunich J, Black GC, Biesecker LG.

Hum Mutat. 2010 Oct;31(10):1142-54. doi: 10.1002/humu.21328.

7.

Fetal alcohol spectrum disorders (FASD): what medical professionals need to know.

Senturias YS, Asamoah A, Allard A, Hersh JH.

J Ky Med Assoc. 2009 May;107(5):177-80. No abstract available.

PMID:
19548521
8.

Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2.

Ballif BC, Theisen A, McDonald-McGinn DM, Zackai EH, Hersh JH, Bejjani BA, Shaffer LG.

Clin Genet. 2008 Nov;74(5):469-75. doi: 10.1111/j.1399-0004.2008.01094.x. Epub 2008 Sep 20.

PMID:
18811697
9.

Aggressive osteoblastoma: a case report involving a unique chromosomal aberration.

Baker AC, Rezeanu L, Klein MJ, Pitt MJ, Buecker P, Hersh JH, Buchino JJ, Siegal GP.

Int J Surg Pathol. 2010 Jun;18(3):219-24. doi: 10.1177/1066896908319675. Epub 2008 Jul 8.

PMID:
18611933
10.

Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication.

Ballif BC, Theisen A, Coppinger J, Gowans GC, Hersh JH, Madan-Khetarpal S, Schmidt KR, Tervo R, Escobar LF, Friedrich CA, McDonald M, Campbell L, Ming JE, Zackai EH, Bejjani BA, Shaffer LG.

Mol Cytogenet. 2008 Apr 28;1:8. doi: 10.1186/1755-8166-1-8.

11.

Health supervision for children with neurofibromatosis.

Hersh JH; American Academy of Pediatrics Committee on Genetics.

Pediatrics. 2008 Mar;121(3):633-42. doi: 10.1542/peds.2007-3364. Review.

PMID:
18310216
12.

Intellectual abilities and adaptive behavior of children and adolescents with Kabuki syndrome: a preliminary study.

Mervis CB, Becerra AM, Rowe ML, Hersh JH, Morris CA.

Am J Med Genet A. 2005 Jan 30;132A(3):248-55.

PMID:
15523605
13.

Chromosome 20q deletion and progression to monosomy 7 in a patient with Shwachman-Diamond syndrome without MDS/AML.

Raj AB, Bertolone SJ, Barch MJ, Hersh JH.

J Pediatr Hematol Oncol. 2003 Jun;25(6):508-9. No abstract available.

PMID:
12794535
14.
15.

Partial duplication 4q and deletion 1p36 in monozygotic twins with discordant phenotypes.

Angle B, Yen F, Hersh JH, Gowans G, Barch M.

Am J Med Genet. 2002 Aug 15;111(3):307-12.

PMID:
12210328
16.

Developmental field defects: coming together of associations and sequences during blastogenesis.

Hersh JH, Angle B, Fox TL, Barth RF, Bendon RW, Gowans G.

Am J Med Genet. 2002 Jul 15;110(4):320-3.

PMID:
12116204
17.

Craniosynostosis, telecanthus, scalp hair abnormalities, and sensorineural deafness in two sibs.

Mégarbané A, Hersh JH, Chouery E, Fabre M.

Am J Med Genet. 2002 May 15;109(4):323-7.

PMID:
11992488
18.

Investigation of illness associated with exposure to hydrogen sulfide among Pennsylvania school students.

Logue JN, Ramaswamy K, Hersh JH.

J Environ Health. 2001 Jan-Feb;63(6):9-13.

PMID:
11381473
19.

Fetal valproate syndrome and autism: additional evidence of an association.

Williams G, King J, Cunningham M, Stephan M, Kerr B, Hersh JH.

Dev Med Child Neurol. 2001 Mar;43(3):202-6.

20.
21.

Neonatal progeroid (Wiedemann-Rautenstrauch) syndrome: report of five new cases and review.

Pivnick EK, Angle B, Kaufman RA, Hall BD, Pitukcheewanont P, Hersh JH, Fowlkes JL, Sanders LP, O'Brien JM, Carroll GS, Gunther WM, Morrow HG, Burghen GA, Ward JC.

Am J Med Genet. 2000 Jan 17;90(2):131-40. Review.

PMID:
10607952
22.

Brief report: the association of neurofibromatosis type 1 and autism.

Williams PG, Hersh JH.

J Autism Dev Disord. 1998 Dec;28(6):567-71. No abstract available.

PMID:
9932243
23.

Predictive value of fetal ultrasonography in the diagnosis of a lethal skeletal dysplasia.

Hersh JH, Angle B, Pietrantoni M, Cook VD, Spinnato JA, Clark AL, Kurtzman JT, Bendon RW, Gerassimides A.

South Med J. 1998 Dec;91(12):1137-42.

PMID:
9853726
24.

Molecularly proven hypochondroplasia with cloverleaf skull deformity: a novel association.

Angle B, Hersh JH, Christensen KM.

Clin Genet. 1998 Nov;54(5):417-20.

PMID:
9842995
25.

The surgical management of the upper extremity anomalies associated with Du Pan syndrome.

Lees VC, Hersh JH, Scheker LR.

J Hand Surg Br. 1998 Feb;23(1):57-61.

PMID:
9571482
26.

Greig cephalopolysyndactyly syndrome: altered phenotype of a microdeletion syndrome due to the presence of a cytogenetic abnormality.

Williams PG, Hersh JH, Yen FF, Barch MJ, Kleinert HE, Kunz J, Kalff-Suske M.

Clin Genet. 1997 Dec;52(6):436-41.

PMID:
9520255
27.

Changing phenotype in Floating-Harbor syndrome.

Hersh JH, Groom KR, Yen FF, Verdi GD.

Am J Med Genet. 1998 Feb 26;76(1):58-61. Review.

PMID:
9508066
28.

A male with fetal valproate syndrome and autism.

Williams PG, Hersh JH.

Dev Med Child Neurol. 1997 Sep;39(9):632-4.

29.

Expansion of the phenotype in Hennekam syndrome: a case with new manifestations.

Angle B, Hersh JH.

Am J Med Genet. 1997 Aug 8;71(2):211-4.

PMID:
9217224
30.
31.

XY gonadal dysgenesis associated with a multiple pterygium syndrome phenotype.

Angle B, Hersh JH, Yen F, Verdi GD.

Am J Med Genet. 1997 Jan 10;68(1):7-11.

PMID:
8986268
32.

A clinical and molecular study of mosaicism for trisomy 17.

Shaffer LG, McCaskill C, Hersh JH, Greenberg F, Lupski JR.

Hum Genet. 1996 Jan;97(1):69-72.

PMID:
8557263
33.

Mirror image duplication of the hands and feet: report of a sporadic case with multiple congenital anomalies.

Hersh JH, Dela Cruz TV, Pietrantoni M, von Drasek-Ascher G, Turnquest MA, Yacoub OA, Joyce MR.

Am J Med Genet. 1995 Nov 20;59(3):341-5. Review.

PMID:
8599358
34.

The impact of major congenital malformations on mortality in a neonatal intensive care unit.

Stewart DL, Hersh JH.

J Ky Med Assoc. 1995 Aug;93(8):329-32.

PMID:
7561453
35.

De novo 1;10 balanced translocation in an infant with thanatophoric dysplasia: a clue to the locus of the candidate gene.

Hersh JH, Yen FF, Peiper SC, Barch MJ, Yacoub OA, Voss DH, Roberts JL.

J Med Genet. 1995 Apr;32(4):293-5.

36.

A non-trophoblastic tumor co-existing with a triploid fetus.

Pietrantoni M, Brees CK, Gerassimides A, Cook V, Youkilis B, Hersh JH.

Early Pregnancy. 1995 Mar;1(1):67-71.

PMID:
9363238
37.

Microcephalic osteodysplastic dysplasia.

Hersh JH, Joyce MR, Spranger J, Goatley EC, Lachman RS, Bhatt S, Rimoin DL.

Am J Med Genet. 1994 Jul 1;51(3):194-9.

PMID:
8074143
38.

The role of genetic counseling in visually impaired adolescents.

Hersh JH, Zelko FA, Womack B, Bloom AS, McMartin L, Russell LJ, Weisskopf B.

J Ky Med Assoc. 1994 Apr;92(4):143-6.

PMID:
8006502
39.
40.

Urethral obstruction sequence and lower limb deficiency: evidence for the vascular disruption hypothesis.

Perez-Aytes A, Graham JM, Hersh JH, Hoyme HE, Aleck K, Carey JC.

J Pediatr. 1993 Sep;123(3):398-405.

PMID:
8355115
41.

Trichothiodystrophy and associated anomalies: a variant of SIBIDS or new symptom complex?

Hersh JH, Klein LR, Joyce MR, Hordinsky MK, Tsai MY, Paller A, Hyzer R, Zax RH.

Pediatr Dermatol. 1993 Jun;10(2):117-22.

PMID:
8346100
42.

Monozygotic twins concordant for Rubinstein-Taybi syndrome and implications for genetic counseling.

Robinson TW, Stewart DL, Hersh JH.

Am J Med Genet. 1993 Mar 15;45(6):671-3. No abstract available.

PMID:
8456842
43.

Aplasia cutis congenita, cleft palate, epidermolysis bullosa, and ectrodactyly: a new syndrome?

Jones EM, Hersh JH, Yusk JW.

Pediatr Dermatol. 1992 Sep;9(3):293-7.

PMID:
1488384
44.

Natal teeth in monozygotic twins with Van der Woude syndrome.

Hersh JH, Verdi GD.

Cleft Palate Craniofac J. 1992 May;29(3):279-81. Review.

PMID:
1591263
45.

Risk of malignancy in Sotos syndrome.

Hersh JH, Cole TR, Bloom AS, Bertolone SJ, Hughes HE.

J Pediatr. 1992 Apr;120(4 Pt 1):572-4. Review.

PMID:
1552397
46.

Partial duplication of the face: case report and review.

Verdi GD, Hersh JH, Russell LJ.

Plast Reconstr Surg. 1991 Apr;87(4):759-62. Review.

PMID:
2008474
47.

Michel's anomaly, type I microtia and microdontia.

Hersh JH, Ganzel TM, Fellows RA.

Ear Nose Throat J. 1991 Mar;70(3):155-7.

PMID:
2044484
48.

Rothmund-Thomson syndrome: a case report.

Roth DE, Campisano LC, Callen JP, Hersh JH, Yusk JW.

Pediatr Dermatol. 1989 Dec;6(4):321-4.

PMID:
2616389
49.

Otocephaly-midline malformation association.

Hersh JH, McChane RH, Rosenberg EM, Powers WH Jr, Corrigan C, Pancratz L.

Am J Med Genet. 1989 Oct;34(2):246-9.

PMID:
2817004
50.

Ivemark's "asplenia" syndrome: a single gene disorder.

McChane RH, Hersh JH, Russell LJ, Weisskopf B.

South Med J. 1989 Oct;82(10):1312-3.

PMID:
2799452

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